国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2021, Vol. 40 ›› Issue (3): 189-192.doi: 10.12280/gjszjk.20200538

• 论著 • 上一篇    下一篇

罕见46,XY/47,XYY嵌合体型女性患者病因诊断的遗传咨询模式探讨

孙艳, 王桂琪, 杨文惠, 莫中福()   

  1. 050000 石家庄市妇幼保健院产前诊断中心实验室与妇产科（孙艳,杨文惠,莫中福）;河北医科大学第一医院外科（王桂琪）
  • 收稿日期:2020-09-16 出版日期:2021-05-15 发布日期:2021-05-28
  • 通讯作者: 莫中福 E-mail:mozhongfu1988@163.com

Preliminary Study on Genetic Counseling Model of Etiological Diagnosis in Rare Case of Female with 46,XY/47,XYY Chimeric Karotype

SUN Yan, WANG Gui-qi, YANG Wen-hui, MO Zhong-fu()   

  1. Laboratory of Prenatal Diagnosis Center and Gynecologic Department, Shijiazhuang Maternity & Child Healthcare Hospital, Shijiazhuang 050000, China (SUN Yan, YANG Wen-hui, MO Zhong-fu); Surgery Department, The First Hospital of Hebei Medical University, Shijiazhuang 050000, China (WANG Gui-qi)
  • Received:2020-09-16 Published:2021-05-15 Online:2021-05-28
  • Contact: MO Zhong-fu E-mail:mozhongfu1988@163.com

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摘要：

目的:报道1例46,XY/47,XYY嵌合体女性性反转,探讨其病因诊断路径,提供临床的遗传咨询。方法:临床特征分析和家系调查。采用外周血淋巴细胞核型分析技术进行染色体核型分析,同时基于二代测序技术（NGS）的全基因组拷贝数变异测序（CNV-seq）进行外周血标本拷贝数变异检测及性别决定基因（SRY基因）及AZF基因位点检测。结果:家系调查表明,该患者具有伴X隐性遗传模式;临床上呈现共外显性特征;社会性别为女性,患者的外周血染色体核型结果为46,XY[57%]/47,XYY[13%],染色体拷贝数变异检测示:Arr[hg19]46,XY[70%]/47,XYY[30%],Yp11.31-q11.223×3,dup(6)(q14.1),SRY基因检测阳性,AZF基因所检测位点均未见缺失。结论:细胞遗传学染色体核型分析技术及CNV-seq均可确诊46,XY/47,XYY嵌合体女性性反转综合征,其遗传病因可能为DAX-1基因表达异常。整合了针对46,XY性反转快速诊断路径的遗传咨询模式,供临床参考。

关键词: 核型分析, 性别决定区Y蛋白质, 嵌合体, 遗传咨询, 46,XY/47,XYY嵌合体女性性反转, DAX-1基因

Abstract:

Objective: To report a rare case of sex reversa female with 46,XY/47,XYY chimeric karotype, and to explore the clinical diagnosis and etiological analysis so as to provide a clinical genetic counseling. Methods: After the analysis of clinical features and family investigation of this case, the karyotype analysis of peripheral blood lymphocytes was used. Based on the next genome sequencing (NGS) and the copy number variation- sequencing (CNV-seq), the copy number variation of peripheral blood samples , sex determining gene (SRY) and AZF gene loci were detected. Results: The family investigation showed that the patient had X-linked recessive inheritance pattern. The clinical features were co-exodominant. The karyotype of this female patient was chimeric 46,XY[57%]/47,XYY[13%], and the detection of chromosomal copy number variation showed: Arr[hg19]46,XY[70%]/47,XYY[30%],Yp11.31-q11.223×3,dup(6)(q14.1). SRY gene was positive, and AZF gene was not missing. Conclusions: The 46,XY/47,XYY female sex reversal syndrome can be diagnosed by cytogenetic karyotype analysis and CNV-seq, and its genetic cause may be the abnormal expression of DAX-1 gene. The genetic counseling model for this sex reversal patient was integrated. This case report provides a useful clinical reference.

Key words: Karyotyping, Sex-determining region Y protein, Chimera, Genetic counseling, 46,XY/47,XYY female sex reversal, DAX-1 gene